筋原線維性ミオパチー

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Duplication	NM_004281.4(BAG3):c.1161dup (p.Lys388fs)	BAG3	Pathogenic	10	121436222	121436223	T	TC	criteria provided, single submitter	ClinGen:CA658656095
single nucleotide variant	NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter)	TTN	Likely pathogenic	2	179442512	179442512	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349671539
single nucleotide variant	NM_001267550.2(TTN):c.100897C>T (p.Gln33633Ter)	TTN	Likely pathogenic	2	179400445	179400445	G	A	criteria provided, single submitter	ClinGen:CA349422531
single nucleotide variant	NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter)	TTN	Likely pathogenic	2	179400456	179400456	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349422586
single nucleotide variant	NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter)	TTN	Likely pathogenic	2	179400770	179400770	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349424907
single nucleotide variant	NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter)	TTN	Pathogenic/Likely pathogenic	2	179416930	179416930	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349509363
single nucleotide variant	NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter)	TTN	Pathogenic/Likely pathogenic	2	179425091	179425091	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349548048
single nucleotide variant	NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)	TTN	Pathogenic/Likely pathogenic	2	179428202	179428202	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA60986821
single nucleotide variant	NM_001267550.2(TTN):c.70763T>G (p.Leu23588Ter)	TTN	Likely pathogenic	2	179440096	179440096	A	C	criteria provided, single submitter	ClinGen:CA349661349
single nucleotide variant	NM_001267550.2(TTN):c.49700C>G (p.Ser16567Ter)	TTN	Likely pathogenic	2	179477748	179477748	G	C	criteria provided, single submitter	ClinGen:CA349601418